Literature DB >> 4773478

Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.

D F Farrell, A K Percy, M M Kaback, G M McKhann.   

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Year:  1973        PMID： 4773478      PMCID： PMC1762568     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  22 in total

1.  Human leucocyte arylsulphatase activity.

Authors:  K R TANAKA; W N VALENTINE; R E FREDRICKS
Journal:  Br J Haematol       Date:  1962-01       Impact factor: 6.998

2.  A histological and chemical study of three cases of diffuse cerebral sclerosis.

Authors:  W BLACKWOOD; J N CUMINGS
Journal:  J Neurol Neurosurg Psychiatry       Date:  1954-02       Impact factor: 10.154

3.  Krabbe's globoid cell leukodystrophy: deficiency of glactocerebrosidase in serum, leukocytes, and fibroblasts.

Authors:  Y Suzuki; K Suzuki
Journal:  Science       Date:  1971-01-08       Impact factor: 47.728

4.  Brain sphingoglycolipids in Krabbe's globoid cell leucodystrophy.

Authors:  Y Eto; K Suzuki
Journal:  J Neurochem       Date:  1971-03       Impact factor: 5.372

5.  Tubules of globoid leukodystrophy: a right-handed helix.

Authors:  E J Yunis; R E Lee
Journal:  Science       Date:  1970-07-03       Impact factor: 47.728

6.  The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy).

Authors:  H G Dunn; B D Lake; C L Dolman; J Wilson
Journal:  Brain       Date:  1969       Impact factor: 13.501

7.  Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.

Authors:  K Suzuki; Y Suzuki
Journal:  Proc Natl Acad Sci U S A       Date:  1970-06       Impact factor: 11.205

8.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

Review 9.  STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. I. THE SIGNIFICANCE OF LIPID ABNORMALITIES IN WHITE MATTER IN 8 GLOBOID AND 13 CONTROL PATIENTS.

Authors:  J AUSTIN
Journal:  Arch Neurol       Date:  1963-09

10.  Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

Authors:  J G Leroy; R I Demars
Journal:  Science       Date:  1967-08-18       Impact factor: 47.728
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  6 in total

1.  Heterozygote detection in MLD. allelic mutations at the ARA locus.

Authors:  D F Farrell
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Genetic control of developmental patterns of cerebral enzyme activities: further differences between C3H and ICR strains of mice.

Authors:  T D Bird; D F Farrell; S Stranahan
Journal:  Neurochem Res       Date:  1981-08       Impact factor: 3.996

3.  Multiple molecular forms of lysosomal enzymes in mucolipidosis II.

Authors:  D F Farrell; M P MacMartin
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Developmental dissociation of myelin synthesis and "myelin-associated" enzyme activities in the shiverer mouse.

Authors:  T D Bird; D F Farrell; S Stranahan; E Austin
Journal:  Neurochem Res       Date:  1980-08       Impact factor: 3.996

5.  Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.

Authors:  G T Besley; A D Bain
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

6.  Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.

Authors:  D F Farrell; S M Sumi; C R Scott; G Rice
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-01       Impact factor: 10.154
  6 in total

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